Single-Cell and Spatial Genomics Technologies
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Did You Know?
Tuberous Sclerosis Complex (TSC) is caused by mutations in either the TSC1 (encoding hamartin) or TSC2 (encoding tuberin) genes. The TSC1/TSC2 protein complex acts as a critical inhibitor of mTORC1 by functioning as a GTPase-Activating Protein (GAP) for Rheb. Loss-of-function mutations in either TSC1 or TSC2 inactivate this complex. This leads to accumulation of Rheb-GTP, which directly and potently activates mTORC1, resulting in uncontrolled cell growth and proliferation, manifesting as the benign tumors (hamartomas) characteristic of the syndrome.
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